Register for Patients With Thyroid Hormone Resistance.
Recruiting
Observational Study
Hypothyroidism
Global Developmental Delay
Intellectual Disability
Dystonia
Muscle Hypotonia
Seizures
Allan-Herndon-Dudley Syndrome
Microcephalus
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 200 (estimated)
- Sponsor
- Charite University, Berlin, Germany · Other
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Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor (collectively referred to as thyroid hormone resistance) subsequently experience psychomotor disabilities.
The "DEEPTYPE" registry has been established with the objective …
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Presence of a coding or non-coding mutation in SLC16A2
* Presence of a coding or non-coding mutation in THRA
* Abnormal fT3/fT4 ratio in the serum
* Written informed consent of the caregivers for participation in the register study
Exclusion Criteria:
* Withdrawal of consent…
Contacts